Canonical Allele Identifier: CA505230361
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1079057
ClinVar RCV Id: RCV001394203
dbSNP Id: rs2022589520
MyVariant Identifiers: chr19:g.7592434G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527548G>T , CM000681.2:g.7527548G>T GRCh38
NC_000019.9:g.7592434G>T , CM000681.1:g.7592434G>T GRCh37
NC_000019.8:g.7498434G>T NCBI36
NG_015806.1:g.9939G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.600G>T MANE Select ENSP00000264079.5:p.Arg200=
ENST00000264079.10:c.600G>T ENSP00000264079.5:p.Arg200=
ENST00000394321.9:n.680G>T
ENST00000598406.1:n.421G>T
ENST00000601003.1:c.572-316G>T ENSP00000469074.1:n.572-316G>T
NM_020533.2:c.600G>T NP_065394.1:p.Arg200=
NM_020533.3:c.600G>T MANE Select NP_065394.1:p.Arg200=
Search 100 bp 5'
Search 100 bp 3'